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Chunk #47 — REGULATORY ELEMENTS IN THE UNTRANSLATED REGIONS — RiboSNitches, structural variation and RNA regulation

Source
Genetic variants in mRNA untranslated regions.
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yes

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By changing the RNA conformation, a riboSNitch can alter the binding of RBPs and miRNAs that interact with the transcript. The interaction between iron responsive element (IRE) and IRE-binding protein (IREBP) in the ferritin light chain (FTL) RNA, requires both a correct IRE sequence and an exact RNA conformation. Both elements allow the RNA interaction with IREBP, which ultimately lead to translational repression. Mutation in any residue that shifts the structure of the IRE, is able to prevent IREBP binding, leading to increased FTL translation and hyperferritinemia phenotype.